Here, we report histological findings of a patient with a FMR1 premutation, who had a severe dopamine deficiency, according to [123I] ioflupane SPECT, and showed clinical signs compatible to the progressive supranuclear palsy – corticobasal syndrome variant (PSP-CBS) as we have previously reported (Paucar et al., 2016). Here, FMR1 is linked to progressive supranuclear palsy.